Case Report: DPM1-CDG: Novel Variant with Severe Phenotype and Literature Review

Background: Congenital disorders of glycosylation (CDG) type I include variants in the DPM1 gene leading to DPM1-CDG. The nine previously reported patients showed developmental delay, seizures, electroencephalography abnormalities and dysmorphic features with varying disease onset and severity. Meth...

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Detalles Bibliográficos
Autores principales: Lausmann, Hanna, Zacharias, Martin, Neuhann, Teresa M., Locher, Melanie K., Schettler, Karl F.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2022
Materias:
Genetics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9326363/
https://www.ncbi.nlm.nih.gov/pubmed/35910228
http://dx.doi.org/10.3389/fgene.2022.889829

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9326363/
https://www.ncbi.nlm.nih.gov/pubmed/35910228
http://dx.doi.org/10.3389/fgene.2022.889829

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